C. Monico

发表

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.

D. Milliner, G. Rumsby, C. Monico, 2002, Kidney international.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

E. Salido, H. Waterham, A. Amoroso, 2009, Human mutation.

Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

C. Charon, D. Magen, R. Belostotsky, 2010, American journal of human genetics.

The Primary Hyperoxalurias: Molecular and Clinical Insights

D. Milliner, G. Rumsby, C. Monico, 2008 .

Genetic determinants of urolithiasis

D. Milliner, C. Monico, 2012, Nature Reviews Nephrology.

Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.

E. Bergstralh, D. Milliner, P. Aronson, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Cardiac abnormalities in primary hyperoxaluria.

J. Lieske, D. Milliner, P. Jiamsripong, 2010, Circulation journal : official journal of the Japanese Circulation Society.

Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.

S. Cramer, D. Milliner, R. Holmes, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2012, American journal of medical genetics. Part A.

Transplantation Outcomes in Primary Hyperoxaluria

E. Bergstralh, J. Lieske, E. Bergstralh, 2010, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

International Registry for Primary Hyperoxaluria

E. Bergstralh, J. Lieske, D. Milliner, 2005, American Journal of Nephrology.

Hyperoxaluria and urolithiasis in young children: an atypical presentation.

D. Milliner, C. Monico, 1999, Journal of endourology.

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.

W. Haley, R. Belostotsky, Y. Frishberg, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

D. Dawson, P. Lundquist, P. Harris, 2007, Journal of the American Society of Nephrology : JASN.

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele.

S. Rossetti, D. Milliner, J. Olson, 2005, Kidney international.

Implications of Genotype and Enzyme Phenotype in Pyridoxine Response of Patients with Type I Primary Hyperoxaluria

D. Milliner, J. Olson, C. Monico, 2005, American Journal of Nephrology.

Combined liver‐kidney and kidney‐alone transplantation in primary hyperoxaluria

D. Milliner, C. Monico, 2001, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.